Summary
Very long chain fatty acids (VLCFA) were found to be markedly increased and phytanic acid was borderline above normal in formalin-fixed brain white matter of case with an unusual type of familial leukodystrophy with epitheloid cells as described previously by Gullotta et al. [Neuropädiatrie (1970) 2: 173–186]. Increased VLCFA in brain clearly demonstrate that the patient had suffered from a peroxisomal disease. This diagnosis is corroborated by ultrastructural findings in brain showing typical lamellar inclusions. The particular type of peroxisomal disorder present in case (heterozygote of X-linked adrenoleukodystrophy?) remains speculative.
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References
Aubourg P, Robain O, Rocchiccioli F, Dancea S, Scotto J (1985) The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma. J Neurol Sci 69:9–25
Budka H, Sluga E, Heiss WD (1976) Spastic paraplegia associated with Addison's disease: adult variant of adrenoleukodystrophy. J Neurol 213:237–250
Budka H, Molzer B, Bernheimer H, Lassmann H, Pilz P, Toifl K (1981) Clinical, morphological and neurochemical findings in adrenoleukodystrophy and its variants. Neuropathology (Tokyo) [Suppl 1]:209–224
Cervós-Navarro J (1991) Pathologie des Nervensystems. V. Degenerative und metabolische Erkrankungen. In: Doerr W, Seifert G, Uehlinger E (eds) Spezielle pathologische Anatomie, vol 13. Springer-Verlag, Berlin Heidelberg New York Tokyo
Gullotta F, Heyer R, Tropitsch G, Hormes R, Citoler P (1970) Ungewöhnliche orthochromatische Leuodystrophie bei drei Geschwistern. Neuropädiatrie 2:173–186
Haas JE, Johnson ES, Farrell DL (1982) Neonatal-onset adrenoleukodystrophy in a girl. Ann Neurol 12:449–457
Heffungs W, Hameister H, Ropers HH (1980) Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus. Clin Genet 18:184–188
Heymans HSA, Wanders RJA, Schutgens RBH (1990) Peroxisomal disorders. In: Fernandes J, Saudubray J-M, Tada K (eds) Inborn metabolic diseases. Diagnosis and treatment. Springer-Verlag, Berlin Heidelberg New York Tokyo
Kyllerman M, Blomstrand S, Månsson JE, Conradi NG, Hindmarsh T (1990) Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy. Neuropediatrics 21:199–201
Molzer B, Bernheimer H, Budka H, Pilz P, Toifl K (1981) Accumulation of very long chain fatty acids is common to 3 variants of adrenoleukodystrophy (ALD). “Classical” ALD, atypical ALD (female patient) and adrenomyeloneuropathy. J Neurol Sci 51:301–310
Molzer B, Kainz-Korschinsky M, Sundt-Heller R, Bernheimer H (1989) Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders. J Clin Chem Clin Biochem 27:309–314
Molzer B, Stöckler S, Bernheimer H (1992) Peroxisomale neurologische Erkrankungen und M. Refsum: überlangkettige Fettsäuren und Phytansäure als diagnostische Marker. Wien Klin Wochenschr 104:665–670
Norman RM, Urich H, Tingey AH (1963) Leucodystrophy with predilection for cerebellum and brain stem. Acta Neuropathol (Berl) 2:278–389
Paturneau-Jouas M, Taillard F, Gansmuller A, Schutgens R, Mikol J, Aigrot MS, Sereni C (1988) Clinical, biochemical, pathological “Zellweger-like” disorder with normal peroxisomes. In: Salvayre R, Douste-Blazy L, Gatt S (eds) Lipid storage disorders. Biological and medical aspects. Plenum Press, New York, pp 805–807
Pilz P, Schiener P (1973) Kombination von Morbus Addison und Morbus Schider bei einer 43-jährigen Frau. Acta Neuropathol (Berl) 26:357–360
Poll-The BT, Roels F. Ogier H, Scotto J, Vamecq J, Schutgens RBH, Wanders RJA, Roermund CWT, van Wijland MJA, Schram AW, Tager JM, Saudubray JM (1988) A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA-oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet 42:422–434
Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP (1975) Adrenoleukodystrophy. A clinical and pathological study of 17 cases. Arch Neurol 32:577–591
Schlote W, Molzer B, Peiffer J, Poremba M, Schumm F, Harzer K, Schnabel R, Bernheimer H (1987) Adrenoleukodystrophy in an adult female. A clinical, morphological, and neurochemical study. J Neurol 235:1–9
Suzuki Y, Shimozawa N, Orii T, Igarashi N, Kono N, Hashimoto T (1988) Molecular analysis of peroxisomal β-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome; further heterogeneity of peroxisomal disorders. Clin Chim Acta 172:65–76
Wanders RJA, van Roermund CWT, Schutgens RBH, Barth PG, Heymans HSA, van den Bosch H, Tager JM (1990) The inborn errors of peroxisomal β-oxidation: a review. J Inherited Metab Dis 13:4–35
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Molzer, B., Gullotta, F., Harzer, K. et al. Unusual orthochromatic leukodystrophy with epitheloid cells (Norman-Gullotta): increase of very long chain fatty acids in brain discloses a peroxisomal disorder. Acta Neuropathol 86, 187–189 (1993). https://doi.org/10.1007/BF00334888
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DOI: https://doi.org/10.1007/BF00334888